{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T08:08:34Z","timestamp":1762848514021,"version":"build-2065373602"},"reference-count":15,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,9,22]]},"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:p>\n                    A woman in her early 20s with a history of delayed wound healing and tissue fragility during caesarean deliveries presented with acute back pain. CT showed right common iliac artery dissection and a retroperitoneal haematoma. The patient was managed conservatively. Eight months later, she presented with a carotid-cavernous sinus fistula caused by rupture of a dissecting aneurysm in the left internal carotid artery. Coil embolisation was performed. 41\u2009months after the initial event, she developed right lower abdominal pain. CT showed right internal iliac artery dissection and haematoma enlargement. Coil embolisation was successfully performed. She was discharged on the seventh postoperative day, but died of sudden cardiac arrest the following day. Genetic testing revealed a novel\n                    <jats:italic>COL3A1<\/jats:italic>\n                    variant (c.2337+2T&gt;G), confirming the diagnosis of vascular Ehlers-Danlos syndrome. This novel splice-donor site variant was associated with three metachronous arterial dissection events over a 41-month period in a young individual.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2025-268094","type":"journal-article","created":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T08:05:18Z","timestamp":1762848318000},"page":"e268094","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Aggressive clinical course of vascular Ehlers-Danlos syndrome with a novel\n                    <i>COL3A1<\/i>\n                    variant"],"prefix":"10.1136","volume":"18","author":[{"given":"Yuki","family":"Orimoto","sequence":"first","affiliation":[{"name":"Department of Vascular Surgery, Aichi Medical University, Nagakute, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junko","family":"Takagi","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Aichi Medical University, Nagakute, Aichi, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takahiro","family":"Arima","sequence":"additional","affiliation":[{"name":"Department of Vascular Surgery, Aichi Medical University, Nagakute, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akio","family":"Kodama","sequence":"additional","affiliation":[{"name":"Department of Vascular Surgery, Aichi Medical University, Nagakute, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,11,10]]},"reference":[{"key":"2025111100050990000_18.11.e268094.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31552"},{"key":"2025111100050990000_18.11.e268094.2","doi-asserted-by":"crossref","first-page":"2022","DOI":"10.1253\/circj.CJ-23-0926","article-title":"JCS\/JCC\/JSPCCS 2024 Guideline on Genetic Testing and Counseling in Cardiovascular Disease","volume":"88","author":"Imai","year":"2024","journal-title":"Circ J"},{"key":"2025111100050990000_18.11.e268094.3","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2008.06994.x"},{"key":"2025111100050990000_18.11.e268094.4","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O"},{"key":"2025111100050990000_18.11.e268094.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.jvs.2005.03.053"},{"key":"2025111100050990000_18.11.e268094.6","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.72"},{"key":"2025111100050990000_18.11.e268094.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.jvs.2016.06.120"},{"key":"2025111100050990000_18.11.e268094.8","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2019.01.058"},{"key":"2025111100050990000_18.11.e268094.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejvs.2020.10.020"},{"key":"2025111100050990000_18.11.e268094.10","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(10)60960-9"},{"key":"2025111100050990000_18.11.e268094.11","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2025111100050990000_18.11.e268094.12","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1111\/cge.13653","article-title":"Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology","volume":"97","author":"Ritelli","year":"2020","journal-title":"Clin Genet"},{"key":"2025111100050990000_18.11.e268094.13","doi-asserted-by":"publisher","DOI":"10.1086\/324123"},{"key":"2025111100050990000_18.11.e268094.14","doi-asserted-by":"crossref","unstructured":"van den Bersselaar LM , van de Laar IMBH , Baars MJH , et al . Pregnancy and Delivery Outcomes in Vascular Ehlers-Danlos Syndrome: A Retrospective Multicentre Cohort Study. BJOG 2025. doi:10.1111\/1471-0528.18142","DOI":"10.1111\/1471-0528.18142"},{"key":"2025111100050990000_18.11.e268094.15","doi-asserted-by":"publisher","DOI":"10.1016\/j.placenta.2008.12.007"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-268094","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T08:05:20Z","timestamp":1762848320000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-268094"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11]]},"references-count":15,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2025,11,10]]},"published-print":{"date-parts":[[2025,11]]}},"alternative-id":["10.1136\/bcr-2025-268094"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-268094","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11]]}}}